HD is a genetically caused brain disorder that causes uncontrollable bodily movements and robs people's ability to walk, talk, eat, and think. The final result is a slow, ugly death. Children of parents with HD have a 50-50 chance of inheriting the disease. There is no cure or treatment.

With Will Smith
starring as the Nigerian-born Dr. Bennet Omalu, a forensic pathologist in the
Allegheny County, PA, coroner’s office who was the first to identify a
debilitating brain disease in deceased former National Football League (NFL)
players, Concussion reveals how powerful political and financial
interests prioritize profit over health, trying to bend or even snuff out
inconvenient scientific knowledge.

Concussion also shows how scientists and physicians
must sometimes go beyond the lab – even risking their jobs – to advocate for
the truth.

As a Huntington’s disease advocate also keenly interested in the condition studied by Dr. Omalu,
chronic traumatic encephalopathy (CTE), I applaud how Concussion helps
raise awareness about brain health.

Like HD-affected
individuals, people with CTE can suffer from symptoms such as depression, wild
mood swings, forgetfulness, irrationality, insomnia, dementia, and suicidal
behavior.

Dr. Omalu’s fight to
get out the word reminds me of the long struggle against ignorance, stigma, and
denial faced by families confronting HD and other rare and neurological
conditions.

‘Trauma chokes the brain’

I watched Concussion on December 27. It dramatically portrays
Dr. Omalu’s discovery of CTE in the brain of Mike Webster after the former
Pittsburgh Steeler star lineman died in 2002 at the 50, having struggled with
behavioral issues, depression, and other cognitive difficulties.

At the end of his
life, estranged from his family, Webster lived in a pickup truck. Suffering
from severe insomnia, he would shock himself with a Taser gun in order to fall
asleep.

Using data from the
Webster autopsy, Dr. Omalu and other researchers published an article in the
scientific journal Neurosurgery suggesting that the impact of Webster’s football career caused CTE.

“You’re going to war
with a corporation that owns a day of the week,” warns Dr. Omalu’s boss,
coroner Dr. Cyril Wecht, portrayed by Albert Brooks, in reference to the
immense popularity of the NFL.

Betraying both
ignorance and arrogance, the NFL
tried to force Omalu to retract his research, something a scientific journal
would do only in the case of plagiarism or falsification of data. Concussion
depicts that ill-fated attempt and Omalu’s resultant indignation.

Unable to stop Omalu,
the NFL, led by Commissioner Roger Goodell, then turned on its effective public
relations machine.

As shown in the film,
it also ignored Dr. Omalu, refusing to allow him to even enter the room at a
league meeting held to discuss his findings. They were instead presented by Dr.
Julian Bailes, a former Steelers team physician – played by Alec Baldwin – who had
become convinced that football endangered players.

As Concussion depicts, Dr. Omalu and his wife were
forced out of Pittsburgh. He took a job as the chief medical examiner in San Joaquin County, CA, but
continued to press the issue of CTE.

You can watch the Concussion
trailer in the video below.

Mounting statistics

Concussion, for all its painful drama, actually
takes a relatively mild approach For example, it doesn’t
show all of the toll football took on Webster’s body and mind.

Complementing Concussion,
the award-winning Frontline
documentary League of Denial: The NFL’s Concussion Crisis, shows photographs from the Webster
autopsy and delves more deeply into the science and politics of CTE. It
originally aired in 2013 and replayed this month in anticipation of Concussion.

Two League of Denial collaborators, ESPN journalists Mark Fainaru-Wada and Steve
Fainaru, have described the issues of CTE and football head trauma as a “public health crisis.”

As noted in League
of Denial and other media reports, NFL doctors and officials have
consistently tried to downplay the CTE evidence. Among their claims: the number
of dead players examined was too small to qualify as scientific evidence, and
some players endangered themselves with issues such as steroid abuse.

“You can’t go against the NFL,” says the real Dr.
Omalu in League of Denial. “They’ll squash you.”

However, as Frontline revealed in an online report in
September and in this month’s broadcast of its documentary, the statistics are
now overwhelming: 87 of 91 NFL deceased players tested positive for CTE. That’s a rate of almost 96 percent.
With semi-professional, college, and high school players included, the figure
is 79 percent.

A young star retires

The League of
Denial update highlighted the case of Chris Borland, a highly aggressive
tackler for the San Francisco 49ers.

“I knew of CTE,”
Borland said in an interview for the program. “I didn’t know what the acronym
stood for. I started with Google searches. I started looking at things: what
does this term mean? Where is the research done?”

Borland understands that
as a player he was prone to both receiving and inflicting trauma-producing
hits. “You understand on a certain level what you’re doing,” he said, “but you
don’t know the science behind it.”

“I think our game has
never been more exciting,” he said in a TV interview replayed by Frontline. “It’s never been more
competitive. And I don’t think it’s ever been safer.”

“It’s dishonest, and
I don’t think it’s responsible, to say that the game is safer,” Borland countered
in the Frontline report. “I think
that’s just not true, and the players themselves on the field know. I mean,
they’d scoff at that. That’s not accurate.”

Borland recalled that
the NFL’s own actuaries estimated that 30 percent of the league’s veterans
would develop brain damage.

“I really don’t watch
football anymore,” he said.

Concussion safety
advocate Chris Nowinski, a former Harvard University football player and
professional wrestler, said of
Borland’s retirement: “It really
made me wonder: if every NFL player had the access to the information he has,
would they make the same choice?”

You can watch a Frontline report on Borland in the video below.

Continued risks

A steady flow of
other reports in 2015 further highlighted the risks of football.

In November, lawyers
for the thousands of former NFL players and families who were awarded a $1
billion payout from the league for cognitive difficulties from
concussion-related injuries returned to court to request an appeal so that CTE can be covered in the settlement.
A decision on the appeal is expected in early 2016.

Also in November, the
family of Pro Football Hall of Famer Frank Gifford, who died in August,
revealed that he suffered from CTE and had shown signs of cognitive
debilitation.

Contrary to Concussion’s
and Dr. Omalu’s assertions that he discovered CTE, medical researchers have
been investigating the disease since at least the 1940s.

At that time, they
focused on the risks of boxing. It’s no surprise that doctors and researchers
have now found the disease in football players.

The themes of Concussion
are deeply familiar to neurological disease communities. In the Huntington’s
community in particular, affected families, advocates, researchers, and drug
developers witness both the majesty and delicateness of the brain on a daily
basis. We seek badly needed treatments for an incurable disorder that disables
people physically and cognitively, turning them into a mere shadow of
themselves.

Although ignorance
and denial might still lead some to view HD as some personality quirk – just as
deniers of football trauma dismiss the link between head trauma and behavioral
problems – the informed members of the HD community know that this medical condition
can be explained by science.

Despite the campaign
against him, Dr. Omalu refused to back down. He drove home how dangerous
football can be. The film reminded me of my realization years ago that I could
no longer watch football with a clear conscience. Now I rarely watch it at all.

Those affected by HD,
Alzheimer’s, Parkinson’s, Lou Gehrig’s, traumatic brain injury, and the myriad
of other neurological and rare diseases should also not back away from their
commitment to advocacy. Dr. Omalu’s example gives us courage to keep fighting
for a clearer understanding of these conditions, better care for those who
suffer from them, and ultimately the development of effective treatments.

Sunday, December 20, 2015

I
dedicate this article to the repose of the brave souls who have lost the fight
against Huntington’s disease.

Twenty years ago this holiday season, my wife Regina and I
received news that changed our lives forever: my mother Carol Serbin had been
diagnosed with Huntington’s disease, and I had a 50-50 chance of having
inherited the genetic defect that caused the deadly disorder.

It happened the morning after Christmas 1995.

As I took stock of that year and looked forward to 1996, I
felt calm and accomplished and, despite my habitual caution, even swaggered a
bit. I was savoring that extra-special, carefree holiday feeling of the college
professor: finals were over, grades were in, and I had a month off.

I felt immensely privileged. In addition to winter and
summer breaks devoted to reading and relaxation, my position afforded me annual
trips to pursue historical research in the country that had become my second
home: Brazil. I felt confident as I neared the half-way mark to tenure, which would
provide me job security.

In five days, on December 31, I would turn 36. Regina, who
was 29, and I had purchased a condo near the university. It was just a few
minutes’ drive from the beach in San Diego, a city with spectacular scenery and
perhaps the world’s best climate.

My achievements gave my parents great pride and vicarious
fulfillment. My father Paul had moved our family from Cleveland to Anaheim in
June 1966, but, two weeks later, missing home and regretful that we kids would
grow up far from our doting grandparents, packed up everything and moved us
back. Regina and I now could live the California dream he had pined for. She
and I talked of starting a family and saving for a vacation home in Rio de
Janeiro, where she grew up.

At around midday, everything suddenly changed.In a phone call with my sister in Cleveland,
I received the greatest shock of my life: my mother had HD.

Paul and Carol Serbin around the time of her diagnosis with Huntington's disease (above, family photo) and a decade later as the disease ravaged her mind and body (below, photo by Gene Veritas, aka Kenneth P. Serbin)

We had never heard of Huntington’s disease. According to my
mother’s doctors, the disease was untreatable, inexorably destroying her brain.
It was causing her to shake uncontrollably – and to lose her mind.

Learning that I had a 50-50 chance of carrying the bad gene instantly
put all of our hopes and dreams on hold.

Would we be able to start a family? Could we still buy that
condo in Rio? In bed one night shortly thereafter, as I became gripped with
fear, Regina held me tightly.

Kenneth and Regina Serbin after his dissertation defense, University of California, San Diego, 1992 (family photo)

Still
symptom-free

Each year since, Christmas has brought a sorrowful reminder
of my mother’s diagnosis – and of the risk I face. After much personal reflection and discussion with Regina, I got tested for HD in 1999, and unfortunately learned I was a carrier of the defective gene.

Through more than 200 articles in this blog since 2005, I
have told the story of my family’s battle, chronicled the scientific movement
to defeat HD, and explored the challenges of individuals, families, and society
coping with this vexing, tragic disease.

As the 20th anniversary of our initiation into HD
approaches, I recognize how fortunate I am to have remained free of the classic
symptoms. This month I turn 56, an age when my mother faced the triad of HD
problems: chorea (uncontrollable movements), cognitive difficulties, and
emotional and behavioral disorders.

As I watched her decline and ultimately die of HD in 2006, after
nearly two decades of suffering, I never imagined that I would reach this stage
symptom-free. At my recent, annual visit to my neurologist, she found no signs
of the disease.

I have much to be thankful for. I savor every moment like a
sip of fine wine.

Regina, an educator, just obtained her administrative
certificate, which qualifies her to shift from teaching to a job as principal. Our
beloved daughter Bianca, who tested negative in the womb, will not develop juvenile Huntington’s. She’s
a hard-working high school student, choral singer, and field hockey player.

Because of HD, my mother could never really hold baby Bianca.
HD took Carol’s life when she was just 68, robbing her of the opportunity to
watch Bianca grow into a young woman.

I can’t share with my mom the success and many happy moments
that she desired for me.

I also miss my father, the “HD warrior” who cared for Carol
daily for more than a decade as her symptoms worsened and died with a broken
heart three years after her death, in 2009.

Awaiting
the gift of a cure

In 1995 we were so young, full of plans and hopes!

Huntington’s disease took away our innocence. In those first
months after learning of my mother’s diagnosis, I began for the first time to
comprehend mortality and the preciousness of time.

Because of HD, life became something very different from
what I imagined it might be.

As I look back on the past 20 years, however, I recognize
that for many, with or without HD, a smooth path cannot be predicted. And I
recognize that life has brought me many good things.

Unlike my mother, who had no inkling that HD was ravaging
her brain, I have had the chance to build a strategy to avoid onset and plan
for the many social implications of the disease.

While my mother developed HD before the gene was even
discovered in 1993, I live at a time when historic clinical trials might turn
HD into a disease that can be managed like diabetes and other conditions.

This Christmas, as I commemorate the birth of Christ, I am
thankful that my parents gave me the gift of life.

I look forward to a future holiday season when Huntington’s
disease families can rejoice in a cure.

Wednesday, December 09, 2015

Encounters with misinformed, sometimes insensitive police are one of the most
vexing and tragic problems faced by people disabled by Huntington’s disease. So
HD advocates and organizations are proactively trying to help law enforcement
officers understand symptoms of the disorder and properly handle individuals in
distress.

“We want them to be a
friend, not a foe,” Doug Schulte, a long-time caregiver to his
HD-afflicted wife Dorlue, said of the relationship between HD-affected people
and police officers.

Doug, a retired fire captain
with the San Diego Fire-Rescue Department, has joined HD advocates in the area
and around the country in raising awareness about the disease. Its many
behavioral disorders have often been misinterpreted as drunkenness, drug usage,
or intentional hostility. People with HD often have an unsteady gait,
involuntary movements, slurred speech, aggressiveness, and other difficulties
that hamper social interaction. But those are warning signs for police
untrained for such interactions.

An informal survey,
which I conducted among HD families on Facebook recently, revealed that police
misunderstanding and harsh treatment of affected individuals continue, but also
that some officers respond with respect. (Click here and here to read about two
previous controversial cases,
in West Virginia and Pennsylvania.)

The survey also
showed that some HD families are taking the initiative to contact the local
police to educate them about the disease and their loved ones.

At the same time,
thanks to both disease advocates and changing perceptions of police officers’
responsibilities, some law enforcement agencies have established programs to
increase officers’ sensitivity when encountering or responding to calls
involving the cognitively disabled and the mentally ill.

On October 3,
California Governor Jerry Brown signed into law a bill mandating that police
officers receive more in-depth training for helping citizens with mental
illness or developmental disabilities, or who are under the influence of
certain substances.

‘Take Me Home’

Doug recently
registered Dorlue in the “Take Me Home” Program of the San Diego County
Sheriff’s Department. Under the program, people with Huntington’s, Alzheimer’s
disease, autism, and other cognitive disabilities or their loved ones can
register their information online. Registrants can upload a photo of the disabled individual and provide a description of the
person and symptoms that officers should know about.

Dorlue Schulte (family photo)

Lt. Mike Knobbe, a
24-year veteran of the sheriff’s department and the coordinator of Take Me
Home, said that the program aims for good relations between the police and the
disabled.

“The whole goal of
this program is to build that partnership and to build that understanding, to
allow you to tell us what you want us to know about your individual with
special needs,” said Lt. Knobbe in a December 2 interview at sheriff’s
headquarters.

Lt. Knobbe runs Take
Me Home as part of his work as head of the department’s search and rescue unit.
He also represents the department at the ambitious Alzheimer’s Project established by the San Diego County
Board of Supervisors to seek treatments and improved care for that disease. The
region has some 60,000 people affected by Alzheimer’s, some of whom dangerously
wander from home and need a program like Take Me Home, Lt. Knobbe said.

Advocates for the
disabled and affected families might not trust the police, he said, if officers don’t understand the
dynamics of a disorder and the difficult situations that can result.

A display table with items from and about the "Take Me Home" Program (photo by Gene Veritas)

“So this is our
opportunity to say, ‘Hey, we want to understand,’” he said. “What do you want
to tell us, so when we get a call referencing your loved one, or to your
residence, it will automatically come to our deputy, and we can have that
knowledge ahead of time.”

With more than 500
individuals registered in the sheriff’s department’s countywide database, Take
Me Home allows the department and other local police agencies to send to patrolling
officers’ computers a photo of the disabled individual, medical information,
and an explanation of unusual symptoms or behaviors. So far, the department has
not tracked results, but may do so in the future. It is actively promoting the
program to other law enforcement agencies in San Diego County and with disability
organizations.

As Lt. Knobbe
explained, typically misunderstood HD symptoms such as aggressiveness can
“absolutely” go into the database.

“That’s something we
want to know,” he said. “We still have a duty and a responsibility as a law
enforcement officer to respond, yet it gives us a chance to have some
information as to why might this be occurring.”

To register, go to www.sdsheriff.net/tmh/. You can listen to Lt. Knobbe introduce
the program to the HD community in the video below.

The San Diego
Sheriff’s Department adopted Take Me Home in 2010 at the initiative of Brian Herritt, a former Palomar College officer with
an autistic son who once wandered from the family car and encountered a
policeman. The boy was unhurt, but the incident prompted Herritt to think about
why officers should understand the behaviors resulting from autism, Lt. Knobbe
said.

In advocating for the
program in San Diego, Herritt studied the Take Me Home program of the Pensacola
(Florida) Police Department. Other departments around the country have similar
programs.

In San Diego, Take Me
Home first relied on patient advocacy groups such as the local Alzheimer’s
association to provide a list of individuals for the database.

This process proved
cumbersome, lengthy, and inconvenient, and the program was falling into disuse,
Lt. Knobbe said. In early 2014, Sheriff Bill Gore tasked him with revamping the
program.

“You can now register
online on your own,” Lt. Knobbe said of the most important change in the
program. “If you’re a caregiver, and you want to register your loved one, you
can access our website and the Take Me Home registry and you can actually do
you own online registration via your Android device, your iPhone, your iPad,
your home computer, attach your own photograph, give us the information you
want us to know, and do it from the comfort of your home.”

People register
voluntarily, but the information remains confidential, he explained.

A screenshot of the Take Me Home webpage, December 9, 2015

Encouraging participation

Lt. Knobbe credited
Doug Schulte with introducing him to HD and getting the disorder listed in the
registry.

Before the
introduction of the online option, Take Me Home “wasn’t utilized,” said Jamie Jirik, the board
secretary for the San Diego Chapter of the Huntington’s Disease Society of
America (HDSA). “The information wasn’t being updated effectively.”

“We want this to stay
around,” Doug said, adding that he and Jamie are encouraging all San Diego County HD families to
participate. “We want this to be something that law enforcement is used to
using for people not only with Huntington’s, but Alzheimer’s, autism, and other
mental illnesses. People who are deaf, too. It’s equipped with photo
recognition software.”

Take Me Home gives
law enforcement a good option: contacting a family member instead of arresting
an HD person, Doug continued. “It’s what law enforcement wants to do,” Doug
said. “They don’t want to take someone down and detain them. It’s a big waste
of time for them.”

“If we have a lot of
individuals in the database, we’ll have more resources available to us from law
enforcement and other first responders,” Jamie added.

“There’s no risk to
it,” said Doug. “It’s all reward. There’s no way that putting the information
in there is going to be a detriment.”

Jamie Jirik and Doug Schulte (photo by Gene Veritas)

A problem ‘easy to fix’

Using HDSA’s Law
Enforcement Toolkit, Jamie and Doug have teamed up to raise awareness about HD
among police agencies, paramedics, and other first responders in the San Diego
region. They have made presentations at training sessions and other
departmental-sponsored events.

Doug calls on his
personal experiences as a caregiver to get across the message about HD.

“When you explain how
it unfolds in a person’s life, it brings a new dimension of understanding,” he
said.

Dorlue has not
experienced difficulties with the police, but Doug recognizes that the
potential exists, as it does for many HD-afflicted people. He’s also listened
to the sufferings of other families.

“The problem of
police detention of HD-affected individuals is an awareness issue that is easy
to fix,” he said. “We want the resources that society puts in place to protect
the HD community to work with us, not against us. My background in fire was to
help solve people’s emergencies. Police want to be there helping us, not
detaining us if it isn’t warranted. I understand, because I have worked beside
law enforcement. They have an extremely difficult job – they just are not aware
of HD.”

Teaching response teams about HD

Jamie, 28,
watched the disease kill her father in her home state of Illinois when she was
12. “He suffered from a lot of the behavioral aspects of HD,” recalled Jamie,
who has tested negative for HD. “We saw his personality change greatly as the
disease progressed.”

Jamie’s
father was “confrontational at times” with the police and arrested several
times, but her mother “actually had a great relationship with law enforcement,”
Jamie said. “They did a
really good job because they didn’t beat him up and respected him as much as possible.”

In addition to
promoting Take Me Home to the local HD community, Jamie and Doug have explained
the disease to local police agencies’ Psychiatric Emergency Response Teams
(PERT). Such teams act as a liaison between law enforcement and health resources.

“They have the
training and experience to interact with individuals with psychological
difficulties,” she said. Departments activate PERT when people become a threat
to themselves or to others, cannot communicate, or cannot clothe or bathe themselves,
Jamie explained. PERT gets a trained clinician inserted into a police
situation.

Jamie and Doug are
promoting other ways of insuring the proper treatment of HD people, including
the newly standardized Huntington’s Disease ID Bracelet sold by HDSA.

“It’s a tool for law
enforcement,” Doug explained. “They can pop this open and get the specific
information about the person’s medical situation. When a paramedic has an
interaction, they need to see the medical history and medications. There’s a
piece of paper in here where you can write all that.”

The HD advocacy
organizations HDCare.org and WeHaveAFace.org have announced a cooperative
effort to provide a new medical ID alert bracelet for HD people. (Click here to read more.)

“There’s not one way
that’s going to work for everyone, but having all these [resources] available
for HD families to utilize will allow people to feel safer and just communicate
with first responders,” Jamie observed.

SIGNAL is open to
asymptomatic carriers of the HD gene like me. I tested positive in 1999, and my
mother succumbed to the disease in 2006.

This is a huge
decision, so I have been weighing the risks and benefits with my wife and
members of the HD community.

After posting an
article about SIGNAL on November 1, I started to waver about whether I should
take part in the trial of VX15/2503, a monoclonal antibody made by the small
Rochester, NY-based biotech company Vaccinex.

I wondered: how safe
is the drug? Why hadn’t I heard about SIGNAL before? With the trial based on
just one recent paper about a test of the drug in transgenic HD mice,
and with other trials typically based on more tests, I wanted to know more
about the science behind it.

I contacted a number
of people in the HD research community. Privately I received assurances about
the safety of VX15/2503 and its potential for alleviating HD – but also
recommendations against participation. One obvious major concern is that the
compound is non-HD-specific, in contrast with the one currently under study in
the historic Isis Pharmaceuticals, Inc., gene-silencing trial.

In a future
article, I hope to interview
Vaccinex scientists about why they think their compound can help HD patients
and presymptomatic individuals like me.

Learning the
background of clinical trials and deciding on participation can be challenging.
In addition to consulting with physicians and clinical trial administrators, HD
people and their families could benefit from better information about clinical
trials. In this article I explore these issues and one (albeit partial)
solution: the idea of a patient/caregiver advisory council to provide
information and advice about HD trials.

No ranking system

Each year, more HD trials
take place, each with unique drug mechanisms and participant selection
criteria. Each volunteer must ask: which is best for me?

It’s possible that a
good drug could be left out of the race because of the increase in the number
of trials: the patient pool might be too small to furnish enough volunteers for every trial.

The Huntington’s Disease Society of America (HDSA), the leading patient organization in
the U.S., recently launched an online search tool, HDTrialfinder.
It’s a “clinical trial matching service” that provides information similar to
that found on at Clinicaltrials.gov, but in a somewhat clearer format.
It has HD-specific search tools and provides the opportunity to receive updates
via email. It lists current HD trials.

However, it does not
rank or recommend trials.

“HDSA does not
endorse any interventional HD drug studies, but we do encourage individuals to
talk with their physicians about the opportunities to participate in all types
of clinical research that can help lead to treatments for HD,” said George
Yohrling, Ph.D., HDSA’s Director of Medical & Scientific Affairs.
“Additionally, we strongly recommend that patients do their own due diligence
to better understand exactly what their involvement in a study would mean to
them and their families.”

HDBuzz.net,
podcasts such as Help4HD’s “The HD View,” and other online sources also provide
easy-to-understand information about HD research and HD clinical trials, but
don’t offer recommendations or rankings.

Cautions about new experimental drugs

To get a broader
understanding of clinical trial planning and HD families’ part in the process,
I conducted a 90-minute phone interview with LaVonne Goodman, M.D., on November
16. The founder of Huntington’s Disease Drug Works and physician to many
HD patients, Dr. Goodman has provided the HD community with a constructively
critical view of the process and its many related issues.

Dr. Goodman began
with some general observations about clinical trials and volunteering for them.

“In general, I have
problems with giving an experimental drug with unknown risks to individuals who
have minor or no symptoms of HD,” she said. “Though it may sound maternalistic,
it is my bias that, if you have a clinical trial for this group of people who
aren’t very sick at all clinically, then a new experimental drug should not be
tried in them first. The risks are unknown, and that’s different than giving
the drug to a symptomatic individual who is already sick, because they have
more at stake and are willing to take a greater risk.”

LaVonne Goodman, M.D. (photo by Gene Veritas)

Two key questions about trials

“We trust our beloved
doctors,” Dr. Goodman continued. “When they do a clinical trial, we may assume
incorrectly that they know all the background. But they aren’t given all the
(scientific) background.”

Dr. Goodman referred
to an article she posted in March about the drug laquinimod, currently under
study in a clinical trial sponsored by the Israel-based pharmaceutical firm
Teva. (Laquinimod has already undergone testing for
multiple sclerosis and shown various benefits for the brain, making it a good
compound, with fairly well known risks, for an HD trial.)

In the article, she
noted that prominent cancer researcher and author Siddhartha Mukherjee, M.D., Ph.D., has suggested that patients ask two “vital” questions about clinical trials:
“Why is the trial being done?[...] What were the data that led to the clinical
trial in the first place?”

“This is particularly
important as our clinical trials become more complicated, and several are
recruiting concurrently,” Dr. Goodman wrote. “This information should be
provided to the community in a format that is easily assessable and in language
that potential participants can understand for every new trial.”

She warned: “Can
sponsors or investigators expect participants to sign up when the rationale for
testing the drug isn’t more available?”

A clinical trial rating scale

Dr. Goodman proposed
that a rating scale – done with feedback from HD families – could help
patients select trials and assure that the most important trials secure enough
volunteers.

“I think there are
some broad recommendations that could be done with a rating scale,” she said,
adding that it could be created with an “independent” group made of patient
advocates and representatives from the Huntington Study Group (administrator of SIGNAL and other HD trials), HDSA, and other organizations.

“Patients’ families are not part of the discussion
when it comes to HD clinical trials,” Dr. Goodman said. “There are groups like cystic
fibrosis and breast cancer where there is precedent for this. I think it would be
helpful to our particularly vulnerable community.”

Dr. Goodman believes
the establishment of such a council may be a “moral obligation” to HD families.

Indeed, behind the
scenes, some HD researchers, advocates, and others in the community have begun
discussing the formation of a patient/caregiver advisory council to furnish
input to HSG and other groups involved in clinical trials regarding clinical
trial design and selection. Such an initiative could include a rating scale.

However, a rating
scale must be built in a positive and efficient way that would “not push drug
company sponsors away,” Dr. Goodman added.

Dr. Goodman pointed
out that drug companies may trial a new drug in HD that was originally
developed for another disease.This is
true for drugs in the LEGATO (laquinimod), Amaryllis, and SIGNAL trials.It remains to be seen whether this is a good
approach for HD, she said.

Furthermore, HDSA
Centers of Excellence and other HD clinics need greater funding to increase
access to care and therefore the number of people potentially interested in
clinical trials, she said. At best, just a quarter of individuals with HD are
seen by research center neurologists. High costs prevent more HD people from
seeing these neurologists, a situation unlikely if the U.S. had a national healthcare
system, she noted.

The FDA and momentum for a council

Momentum for
patient/caregiver advisory councils for HD and other diseases is building in
the wake of the recent and historic set of “patient-focused drug development”
hearings held by the U.S. Food and Drug Administration (FDA), including the
September 22 meeting on Huntington’s (click here to read more).

In the words of one
informed observer, the FDA is “not just doing this for show.” The agency will
likely start requiring drug companies to include patients’ perspective in
clinical trial design.

Despite its duty to
safeguard the public, the FDA itself also does not rate or recommend drugs,
although it does carefully examine the outcome of a clinical trial before approving
a drug for the market.

Likewise, the FDA is
concerned primarily about toxicity when allowing a company to go forward with a
Phase I or II clinical trial (when safety is the primary concern). For instance,
the agency does not look at whether a drug for HD actually gets into the brain,
Dr. Goodman said.

“Their primary
objective is to not let something that appears too unsafe get into a clinical
trial,” she observed. “They don’t discourage drug companies
from testing drugs. On the contrary, they want drugs to be tested.”

Comparing trials

We can imagine the
idea of an HD clinical trial rating scale overseen by a patient/caregiver
advisory council as giving us the same power people have when doing comparison
shopping at sites such as Consumer Reports or CNET.com.

We need information
that is succinct but relevant, scientifically rigorous but understandable.

We also need the
capability to compare the different trials. For those council members who ask,
the trial sponsors could furnish full scientific data.

In effect, the HD
community has often acted as its own clinical trial guide.

The decision to
participate in a clinical trial is ultimately a personal one best made in
consultation with a physician.

Having the additional assistance of a rating scale can
facilitate the process and potentially speed the search for effective
treatments.